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Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients

23 Dec 2025

Abstract excerpt

BACKGROUND: Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. These disorders can affect multiple organs, leading to a broad spectrum of symptoms that vary among different CDG subtypes and between individuals with same type of CDG. This study aimed to investigate the...

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PMID: 41437099
DOI: 10.1186/s13023-025-04075-7

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